{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:08:59Z","timestamp":1790611739577,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,1,6]],"date-time":"2015-01-06T00:00:00Z","timestamp":1420502400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R21EY022779\u201001"],"award-info":[{"award-number":["R21EY022779\u201001"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,11]]},"abstract":"\n Anophthalmia\/microphthalmia (A\/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the\n \n ACE Exome\n TM<\/jats:sup>\n <\/jats:styled-content>\n (Personalis, Inc; 18 cases) and\n UCSF<\/jats:styled-content>\n Genomics Core (21 cases) to sequence 28 patients with A\/M and four patients with varied developmental eye defects. In the 28 patients with A\/M, we identified\n de novo<\/jats:italic>\n mutations in three patients (\n \n OTX2<\/jats:styled-content>\n <\/jats:italic>\n , p.(\n Gln91His<\/jats:styled-content>\n ),\n \n RARB<\/jats:styled-content>\n <\/jats:italic>\n , p.\n Arg387Cys<\/jats:styled-content>\n and\n \n GDF6<\/jats:styled-content>\n <\/jats:italic>\n , p.\n Ala249Glu<\/jats:styled-content>\n ) and inherited mutations in\n \n STRA6<\/jats:styled-content>\n <\/jats:italic>\n in two patients. In patients with developmental eye defects, a female with cataracts and cardiomyopathy had a\n \n de novo\n COL4A1<\/jats:styled-content>\n <\/jats:italic>\n mutation, p.(\n Gly773Arg<\/jats:styled-content>\n ), expanding the phenotype associated with\n \n COL4A1<\/jats:styled-content>\n <\/jats:italic>\n to include cardiomyopathy. A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two\n \n PNPT1<\/jats:styled-content>\n <\/jats:italic>\n mutations, p.(\n Ala507Ser<\/jats:styled-content>\n ) and c.401\u2010\n 1G<\/jats:styled-content>\n >A, and we describe eye defects associated with this gene for the first time. Exome sequencing was efficient for identifying mutations in pathogenic genes for which there is no clinical testing available and for identifying cases that expand phenotypic spectra, such as the\n \n PNPT1<\/jats:styled-content>\n <\/jats:italic>\n and\n \n COL4A1<\/jats:styled-content>\n <\/jats:italic>\n \u2010associated disorders described here.\n <\/jats:p>","DOI":"10.1111\/cge.12543","type":"journal-article","created":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T16:55:31Z","timestamp":1417539331000},"page":"468-473","source":"Crossref","is-referenced-by-count":63,"title":["Exome sequencing in 32 patients with anophthalmia\/microphthalmia and developmental eye defects"],"prefix":"10.1111","volume":"88","author":[{"given":"A.M.","family":"Slavotinek","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of California San Francisco San Francisco CA USA"},{"name":"Program in Human Genetics University of California San Francisco San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.T.","family":"Garcia","sequence":"additional","affiliation":[{"name":"Personalis, Inc. 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